Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Heidemarie Kendziorra"'
Autor:
Michel Mittelbronn, Lucy B. Rorke-Adams, Heidemarie Kendziorra, Ellen Stopper, Hartwig Wolburg, Patricia da Silva Sousa
Publikováno v:
Pediatric and Developmental Pathology. 11:397-401
Exencephaly/anencephaly is a rare neural tube defect occurring early in embryogenesis. We report a 14-week-old fetus with exencephaly in whom central nervous system tissue was developed and preserved. There were 2 symmetrical structures grossly resem
Autor:
Herbert Enders, Thomas Eggermann, Heidemarie Kendziorra, Peter Kaiser, Ulrike A. Mau, Susanne Mackensen-Haen, Ludger Sieverding, Ute Klein-Vogler
Publikováno v:
Clinical Genetics. 53:293-297
We present an unusual case of monosomy 17p13-pter and monosomy Xp22.2-pter due to a dicentric translocation chromosome X/17 in a female newborn with severe anomalies. The karyotype was identified as 45,X,dic(X;17)(p22.2;p13) by high resolution GTG ba
Autor:
Hildegard Kehrer-Sawatzki, Eva Daumiller, Jutta Müller-Navia, Eva Rossier, Gotthold Barbi, Heidemarie Kendziorra, Gabriele du Bois
Publikováno v:
Prenatal Diagnosis. 25:954-959
Objectives To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed interstitial deletion 10q25.2-q26.1. The majority of distal 10q deletions are pure terminal deletions with breakpoints in 10q25 and 10q26. Onl
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 214:188-192
Background The great majority of reports dealing with human cyclopia and synophthalmia are derived from fetuses at the end of pregnancy. Thus, data concerning early organization of the ocular anlage in this impressive ocular developmental anomaly are
Autor:
Adalbert Bohle, Harald Pressler, Bernadette Schubert, Franek Kokot, Jasmina Marcovic-Lipkovski, Hartmut Osswald, Heidemarie Kendziorra, Jan A. Christensen
Publikováno v:
American Journal of Nephrology. 10:374-388
The morphometric investigation of the proximal and distal tubules, the cortical interstitium, the intertubular capillaries, the renal corpuscles and the juxtaglomerular apparatuses (JGAs) in 56 cases in the oligoanuric, polyuric, and normuric phases
Autor:
Hildegard, Kehrer-Sawatzki, Eva, Daumiller, Jutta, Müller-Navia, Heidemarie, Kendziorra, Eva, Rossier, Gabriele, du Bois, Gotthold, Barbi
Publikováno v:
Prenatal diagnosis. 25(10)
To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed interstitial deletion 10q25.2-q26.1. The majority of distal 10q deletions are pure terminal deletions with breakpoints in 10q25 and 10q26. Only four pati
Publikováno v:
Transplant International. 19:172-173
Publikováno v:
American journal of medical genetics. 71(2)
Restrictive dermopathy (RD) is a lethal autosomal recessive genodermatosis (MIM No. 275210) in which tautness of the skin causes fetal akinesia or hypokinesia deformation sequence (FADS). Polyhydramnios with reduced fetal movements is followed by pre
Autor:
Ulrike Orth, Andreas Dufke, Brigitte Vollmer, Heidemarie Kendziorra, Susanne Mackensen-Haen, Andreas Gal, Thorsten Orlikowsky
Publikováno v:
Karolinska Institutet
Careful investigation of hydrops fetalis (HF) is important with regard to genetic counselling and prenatal diagnosis. HF is known to be associated with various genetic disorders. To date there has been only one report of a male fetus in whom incontin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::363d9405304bcecfa810aa16307afb3a
http://www.ncbi.nlm.nih.gov/pubmed/11746157
http://www.ncbi.nlm.nih.gov/pubmed/11746157